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25283002: Congenital dysplasia (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Congenital dysplasia Is a Dysplasia false Inferred relationship Existential restriction modifier
    Congenital dysplasia Is a Congenital malformation false Inferred relationship Existential restriction modifier
    Congenital dysplasia Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Otopalatodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Multiple epiphyseal dysplasia Lowry type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    X-linked spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Tall stature, scoliosis, macrodactyly of great toe syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia Kaitila type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dentin dysplasia, type I Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dentin dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cortical dysplasia with focal epilepsy syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Rhizomelic syndrome Urbach type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dentin dysplasia with sclerotic bone syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Imperforate oropharynx, costovertebral anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ectrodactyly polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hypertrichosis cubiti Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Postaxial tetramelic oligodactyly Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Holoprosencephaly with caudal dysgenesis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Tetramelic monodactyly Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Hallux varus, preaxial polysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Axial spondylometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Teebi Shaltout syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Imperforate oropharynx, costovertebral anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Teebi Shaltout syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Parietal foramina with clavicular hypoplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Absent radius, anogenital anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pilodental dysplasia, refractive errors syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Ectodermal dysplasia syndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Thrombocythemia with distal limb defect Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Weismann Netter syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oculodentodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Multiple epiphyseal dysplasia Al-Gazali type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pili torti onychodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Pili torti onychodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Nail-patella syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Dysplasia of head of femur Meyer type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hall Riggs syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Trichothiodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Pelviscapular dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Genochondromatosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Gnathodiaphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Parastremmatic dwarfism Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Taurodontia with absent teeth and sparse hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Brachydactylous dwarfism Mseleni type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Carbohydrate sulfotransferase 3 related skeletal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Mesomelic dysplasia Kantaputra type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cleidorhizomelic syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Mesomelic dysplasia with cleft palate and camptodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Spondyloepimetaphyseal dysplasia Shohat type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ulna metaphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dermo-odonto dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Thymic, renal, anal, lung dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloepimetaphyseal dysplasia Missouri type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ackerman syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Truncal valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hip dysplasia with enchondromata and ecchondroma syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondylometaphyseal dysplasia Schmidt type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cerebrofacial dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Skeletal dysplasia with intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Diaphanospondylodysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lethal recessive chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oculoosteocutaneous syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acrofacial dysostosis Catania type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondylocamptodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Catel Manzke syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Autosomal dominant spondylocostal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia punctata Toriello type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Craniometadiaphyseal dysplasia wormian bone type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    12q14 microdeletion syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Acrofrontofacionasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Acrofrontofacionasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cranioosteoarthropathy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloepimetaphyseal dysplasia aggrecan type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lissencephaly type 3 metacarpal bone dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Multiple epiphyseal dysplasia Beighton type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Craniofacial conodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Cheirospondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lethal Larsen-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    X-linked dominant chondrodysplasia Chassaing Lacombe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Eiken syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Heart-hand syndrome type 3 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Bowed tibia, radial anomaly, osteopenia, fracture syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Grant syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Choroidal atrophy and alopecia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Primary renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pelvis shoulder dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acrofacial dysostosis Kennedy Teebi type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1

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